Canonical Allele Identifier: CA970963822

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894551835
• gnomAD v3: 15-66781041-AG-A
• gnomAD v4: 15-66781041-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781042del , CM000677.2:g.66781042del	GRCh38
NC_000015.9:g.67073380del , CM000677.1:g.67073380del	GRCh37
NC_000015.8:g.64860434del	NCBI36
NG_012244.1:g.83707del
NG_012244.2:g.83707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.998del MANE Select	ENSP00000288840.5:p.Ser333ThrfsTer?
ENST00000288840.9:c.998del	ENSP00000288840.5:p.Ser333ThrfsTer?
ENST00000557916.5:c.1130del	ENSP00000452955.1:n.1130del
ENST00000559931.5:c.302del	ENSP00000453446.1:n.302del
NM_005585.4:c.998del	NP_005576.3:p.Ser333ThrfsTer?
NR_027654.1:n.2053del
XM_011521561.1:c.215del	XP_011519863.1:p.Ser72ThrfsTer?
XR_931825.1:n.2397del
XM_011521561.2:c.215del	XP_011519863.1:p.Ser72ThrfsTer?
NM_005585.5:c.998del MANE Select	NP_005576.3:p.Ser333ThrfsTer?
NR_027654.2:n.2153del